Gaucher disease in a family from Maranhão

Abstract

BackgroundGaucher disease is an inborn, autosomal recessive error of the metabolism which belongs to the group of lysosomal storage disorders.ObjectiveThis work reports on the treatment of Gaucher disease in several members of the same family from the countryside of Maranhão.MethodsThis was an observational, retrospective and prospective, descriptive case study about the efficacy of enzyme replacement therapy.ResultsThe results showed that women were more affected (80% of patients) by the disease, age at diagnosis ranged from 24 to 33 years, the predominant ethnicity was mulatto (80%) and all cases were classified as type 1. The diagnosis of these patients was performed by measuring the levels of glucocerebrosidase and chitotriosidase enzymes and confirmed by genotyping. All patients suffering from Gaucher disease had low glucocerebrosidase levels. Before replacement therapy, hepatosplenomegaly was the most common clinical manifestation (100%) and osteopenia was seen in 80% of the cases. Regarding hematological manifestations, anemia and leukopenia were found in 40% of patients at diagnosis; however the hemoglobin and leukocyte levels were normalized after four years of therapy. Thrombocytopenia, observed in 20% of cases, was normalized after the second year of treatment.ConclusionIn these cases, despite gaps in the treatment as the family resides in the rural region of the state, the patients with Gaucher disease showed satisfactory therapeutic response over time.

Signs and symptoms in Gaucher Disease: priority nursing diagnoses

“…Among the signs presented by type 1 patients, splenomegaly and hepatomegaly stand out as the most common clinical features observed (16) . In a study cited above (2) all patients presented with splenomegaly, while hepatomegaly was identified in 86.7% of the sample.…”

Doença De Gaucher Tipo 1 No Esqueleto: Revisão Da América Latina

“…[28][29][30][31][32][33][34][35][36] The prevalence values reported in these articles are presented in Table 1, with registry and non-registry cohorts reported separately.…”

Doença de Gaucher e atuação do cirurgião-dentista: relato de caso

“…No final do século XIX, na França o médico Philippe Gaucher descreveu de forma inédita, uma doença cujo paciente apresentava um aumento significativo do fígado e do baço após biópsia. Patologia essa que veio a se chamar Doença de Gaucher (DG) é uma doença de depósito lisossômico com origem genética de herança autossômica recessiva, que consiste no aumento de glicocerebrosídeo não digerido no interior dos macrófagos teciduais, o que leva a alterações histológicas principalmente em órgãos com grande quantidade de células do sistema imunológico como o fígado, baço e ossos [1][2][3][4][5] .…”

“…Apesar de não haver consenso sobre a quantidade da enzima necessária para manter a reversão dos sintomas, ela se mostra eficaz na diminuição dos sintomas no fígado, baço, dor óssea, fraturas patológicas e no aumento da hemoglobina e plaquetas. O tratamento é indicado para o tipo I, sendo ineficaz nas manifestações neurológicas nos Tipos II e III, uma vez que a enzima não ultrapassa a barreira hematoencefálica 2,6,8,16,17 .…”